A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262425



Internal ID22133878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:27847668..27865142hg38UCSC Ensembl
Outerchr18:25427632..25445106hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249989
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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